Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADAM22 Q9P0K1 ADAM metallopeptidase domain 22 Enzyme 0.25 0.678 0.615
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
AMT P48728 aminomethyltransferase 2.7E-03 0.674 0.692
AP2M1 Q96CW1 adaptor related protein complex 2 subunit mu 1 Extracellular structure 1.00 0.751 0.231
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808